Incidental Mutation 'IGL01590:Slc20a1'
| ID |
91580 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc20a1
|
| Ensembl Gene |
ENSMUSG00000027397 |
| Gene Name |
solute carrier family 20, member 1 |
| Synonyms |
Glvr1, PiT-1, Glvr-1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01590
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
129040684-129053536 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 129051146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105944
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028880]
[ENSMUST00000110315]
|
| AlphaFold |
Q61609 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028880
|
| SMART Domains |
Protein: ENSMUSP00000028880
Gene: ENSMUSG00000027397
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PHO4
|
43 |
667 |
1.8e-162 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110315
|
| SMART Domains |
Protein: ENSMUSP00000105944
Gene: ENSMUSG00000027397
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PHO4
|
43 |
667 |
1.3e-132 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125714
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127525
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141285
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144025
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a sodium-phosphate symporter that absorbs phosphate from interstitial fluid for use in cellular functions such as metabolism, signal transduction, and nucleic acid and lipid synthesis. The encoded protein is also a retroviral receptor, causing human cells to be susceptible to infection by gibbon ape leukemia virus, simian sarcoma-associated virus, feline leukemia virus subgroup B, and 10A1 murine leukemia virus.[provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit mid-gestation lethality associated with abnormal vitelline vasculature, growth retardation, and anemia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
A |
2: 19,482,590 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
T |
G |
4: 129,907,606 (GRCm39) |
|
probably benign |
Het |
| Apcs |
C |
T |
1: 172,722,034 (GRCm39) |
G104D |
probably damaging |
Het |
| Atp10b |
G |
A |
11: 43,063,548 (GRCm39) |
R161H |
probably benign |
Het |
| Cep250 |
A |
T |
2: 155,834,237 (GRCm39) |
Q2054L |
possibly damaging |
Het |
| Dennd6a |
T |
G |
14: 26,340,507 (GRCm39) |
V207G |
probably benign |
Het |
| Ehbp1 |
C |
A |
11: 22,045,611 (GRCm39) |
D688Y |
possibly damaging |
Het |
| Fam83a |
C |
A |
15: 57,873,173 (GRCm39) |
S334Y |
probably damaging |
Het |
| Fam83e |
T |
A |
7: 45,373,360 (GRCm39) |
F242Y |
probably null |
Het |
| Fnip1 |
A |
T |
11: 54,384,126 (GRCm39) |
D341V |
probably damaging |
Het |
| Gpatch3 |
A |
G |
4: 133,308,028 (GRCm39) |
|
probably benign |
Het |
| Gpc2 |
C |
A |
5: 138,272,640 (GRCm39) |
V558F |
probably damaging |
Het |
| H2-M10.6 |
A |
G |
17: 37,123,641 (GRCm39) |
N112D |
probably benign |
Het |
| Hs6st1 |
A |
T |
1: 36,142,785 (GRCm39) |
D240V |
probably damaging |
Het |
| Inpp5f |
T |
A |
7: 128,266,031 (GRCm39) |
|
probably null |
Het |
| Itga8 |
G |
T |
2: 12,165,144 (GRCm39) |
H822N |
probably damaging |
Het |
| Kif20b |
T |
A |
19: 34,932,126 (GRCm39) |
N1263K |
possibly damaging |
Het |
| Krt28 |
A |
G |
11: 99,265,220 (GRCm39) |
|
probably null |
Het |
| Muc5ac |
A |
T |
7: 141,352,630 (GRCm39) |
M706L |
probably benign |
Het |
| Or1j12 |
A |
T |
2: 36,343,004 (GRCm39) |
M136L |
probably benign |
Het |
| Or52h9 |
A |
C |
7: 104,202,782 (GRCm39) |
I219L |
probably benign |
Het |
| Prox2 |
A |
G |
12: 85,134,845 (GRCm39) |
W479R |
probably damaging |
Het |
| Rps19 |
A |
T |
7: 24,587,881 (GRCm39) |
D152V |
probably damaging |
Het |
| Slc7a2 |
C |
T |
8: 41,367,137 (GRCm39) |
P564S |
probably damaging |
Het |
| Slco1a5 |
C |
A |
6: 142,196,045 (GRCm39) |
M319I |
probably benign |
Het |
| Spmip2 |
A |
C |
3: 79,356,647 (GRCm39) |
N150T |
probably damaging |
Het |
| Spopfm3 |
G |
A |
3: 94,105,674 (GRCm39) |
|
probably benign |
Het |
| Tanc1 |
A |
G |
2: 59,615,817 (GRCm39) |
T275A |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,681,837 (GRCm39) |
S2598P |
probably damaging |
Het |
| Tiparp |
G |
A |
3: 65,439,397 (GRCm39) |
E56K |
probably benign |
Het |
| Trpm5 |
G |
A |
7: 142,636,471 (GRCm39) |
R489C |
probably damaging |
Het |
| Vmn2r84 |
C |
A |
10: 130,221,964 (GRCm39) |
G752V |
probably damaging |
Het |
| Wnt5b |
T |
A |
6: 119,417,515 (GRCm39) |
T130S |
possibly damaging |
Het |
|
| Other mutations in Slc20a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02563:Slc20a1
|
APN |
2 |
129,049,604 (GRCm39) |
missense |
probably benign |
|
|
R0037:Slc20a1
|
UTSW |
2 |
129,052,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0514:Slc20a1
|
UTSW |
2 |
129,041,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1221:Slc20a1
|
UTSW |
2 |
129,050,324 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2099:Slc20a1
|
UTSW |
2 |
129,049,758 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2122:Slc20a1
|
UTSW |
2 |
129,041,739 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2261:Slc20a1
|
UTSW |
2 |
129,048,394 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2426:Slc20a1
|
UTSW |
2 |
129,050,150 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3428:Slc20a1
|
UTSW |
2 |
129,042,202 (GRCm39) |
missense |
probably benign |
|
|
R4712:Slc20a1
|
UTSW |
2 |
129,041,611 (GRCm39) |
splice site |
probably benign |
|
|
R4981:Slc20a1
|
UTSW |
2 |
129,041,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5213:Slc20a1
|
UTSW |
2 |
129,042,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5395:Slc20a1
|
UTSW |
2 |
129,050,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5506:Slc20a1
|
UTSW |
2 |
129,052,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6255:Slc20a1
|
UTSW |
2 |
129,049,924 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6266:Slc20a1
|
UTSW |
2 |
129,051,814 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7022:Slc20a1
|
UTSW |
2 |
129,041,979 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7091:Slc20a1
|
UTSW |
2 |
129,050,192 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7175:Slc20a1
|
UTSW |
2 |
129,052,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7250:Slc20a1
|
UTSW |
2 |
129,051,844 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7914:Slc20a1
|
UTSW |
2 |
129,049,757 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7915:Slc20a1
|
UTSW |
2 |
129,049,757 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7916:Slc20a1
|
UTSW |
2 |
129,049,757 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7919:Slc20a1
|
UTSW |
2 |
129,049,757 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8051:Slc20a1
|
UTSW |
2 |
129,050,120 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8098:Slc20a1
|
UTSW |
2 |
129,051,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8181:Slc20a1
|
UTSW |
2 |
129,051,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8420:Slc20a1
|
UTSW |
2 |
129,041,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9124:Slc20a1
|
UTSW |
2 |
129,051,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9532:Slc20a1
|
UTSW |
2 |
129,041,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Slc20a1
|
UTSW |
2 |
129,041,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Slc20a1
|
UTSW |
2 |
129,046,020 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2013-12-09 |
Incidental Mutation